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Mendeliome

Gene: QRICH1

Green List (high evidence)

QRICH1 (glutamine rich 1)
EnsemblGeneIds (GRCh38): ENSG00000198218
EnsemblGeneIds (GRCh37): ENSG00000198218
OMIM: 617387, Gene2Phenotype
QRICH1 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Eight unrelated individuals reported with expressive speech delay, moderate motor delay, learning difficulties/ mild ID, mild microcephaly, short stature and notable social behaviour deficits as clinical hallmarks. One individual reported with nephroblastoma.
Created: 4 Oct 2020, 11:04 p.m. | Last Modified: 4 Oct 2020, 11:04 p.m.
Panel Version: 0.4777

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ververi-Brady syndrome, MIM#617982

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ververi-Brady syndrome, MIM#617982
OMIM
617387
Clinvar variants
Variants in QRICH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: qrich1 has been classified as Green List (High Evidence).

4 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: QRICH1 were changed from to Ververi-Brady syndrome, MIM#617982

4 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: QRICH1 were set to

4 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: QRICH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: QRICH1 was added gene: QRICH1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: QRICH1 was set to Unknown